Case Report

Background: Once considered surgically unapproachable, the brainstem remains a challenging field for neurosurgeons, despite technical advances and better anatomical understanding. Particularly in this location, vascular malformations such as cavernomas have the potential to induce severe neurological deficits and/or death.

Case Report: We report the uncommon case of a 39 year-old male who presented with diplopia, abnormal pupillary motor responses, and slight brachiofacial palsy. Imaging studies revealed a left ventral midbrain hemorrhage and subjacent cavernoma. An approach was performed to the lesion through pterional craniotomy and a pretemporal route to the interpeduncular fossa. A pial incision was directed by the presence of gliotic tissue and the cavernoma was excised, with complete reversal of symptoms.

Conclusions: We review the available literature and debate the surgical indication, the advantages, and the difficulties of this approach for cavernomas in this area. This case confirms there are relatively safe entry zones for the ventral midbrain, and that successful surgery is possible in this location with the right reference points.

Background: Trichophagia secondary to trichotillomania can be a potentially life-threatening condition if left untreated. Trichobezoars consist of hairballs in the lumen of the digestive tract; when it extends past the duodenum it is called Rapunzel Syndrome. Although trichobezoars are not uncommon, they are rare in psychiatric literature. The authors present a clinical case of Rapunzel syndrome and discuss some relevant aspects concerning the identification and treatment of this entity.

Case Report: This report documents the case of a 21-year-old female patient with a trichobezoar submitted to surgical intervention. She had a history of hair pulling since the age of 4 with intermittent psychiatric follow-up.

Conclusions: Early diagnosis and intervention are crucial, but not always sufficient to avoid serious complications. Further research is needed to increase knowledge regarding the etiology and treatment of this psychiatric condition.

Background: Arteriovenous malformation (AVM) is defined as a convolute of abnormally connected arteries and veins, where capillary bed is
missing. The most common localization of AVM is intracranial. Brain malformations are about 20 times more frequent than extracerebral ones. Clinical signs
depend on the localization of the malformation; besides local pain or bleeding, steal phenomenon often can be seen.

Case report: We present a case of a 61-year-old woman, who was admitted to the hospital because of recurrent syncopes. During the neurosonologic
examination we could see the acceleration of blood flow in the left common carotid artery (133 cm/s), a huge convolute of the vessels in the area of its
bifurcation and accelerated, low resistant flow in the origin of external carotid artery with PSV 270 cm/s and low resistance index (0.3–0.4). The changes
were seen also in the venous part, with sings of arterial flow there. Magnetic resonance angiography was performed, and confirmed a large malformation in the
carotid artery bifurcation (about 8 cm). The patient was sent to endovascular diagnostics and treatment; on digital subtraction angiography, a high-flow
malformation of left lingual artery on the left half of the tongue was diagnosed. The selective embolization of the lingual artery by the coils was performed
with very good radiologic and clinical outcome.

Conclusions: A thorough neurosonologic examination is important and can raise the suspicion of an arteriovenous malformation, as in this very unusual
case.

Background: Bilateral steno-occlusive disease of middle cerebral artery (MCA) in young adults raises significant issues regarding etiology
and treatment. The potential concomitance of hypoperfusion in the affected territories is of particular clinical relevance.

Case report: A 37-year-old man was admitted for a right MCA transient ischaemic attack. He was smoker, obese, dyslipidaemic, with previous history of
heroin addiction and cured B and C hepatitis virus infections. Brain magnetic resonance and cardiac evaluation were normal. Transcranial color-coded
sonography (TCCS) showed >50% proximal right MCA stenosis and distal left MCA occlusion. Treatment with aspirin and statin was started. Three months later,
TCCS revealed >70% right MCA stenosis and left MCA occlusion. Selective angiography confirmed the steno-occlusive disease. Cerebrospinal fluid analysis
revealed increased protein levels and a normal cell count. Corticotherapy was started, but the patient did not complied. Bilateral occlusion of MCA was
noticed on TCCS, one month later, being the patient asymptomatic. Pulsed arterial spin labelling (PASL) revealed a severe decrease of cerebral blood flow in
the distal part of both MCA territories.

Conclusions: The etiology of this progressive steno-occlusive disease remains unknown. Atherosclerosis may be a possible mechanism, however other
potential etiologies must be considered giving the rapidly progressive character of the disorder. As it seems to be now stabilized, we wonder if it can be
due to the vascular risk factors control and antithrombotic treatment or to a non-identified inflammatory monophasic cause. Serial TCCS played a major role
in the assessment of disease progression.

Background: With this case we intend to add knowledge to the differences between paliperidone and risperidone namely in causing cardiovascular effects.

Case Report: We report a case of a young adult with a first psychotic event, who presented with sinusal tachycardia after the initiation of treatment with paliperidone. Tachycardia appeared to be dose-related and no other changes were observed in the electrocardiogram.

Conclusions: This case is in accordance with data suggesting that paliperidone presents a good overall tolerability profile compared with risperidone, except for increased rates of tachycardia. Further studies are needed to assess the incidence and clinical implications of tachycardia associated with paliperidone.

Background: Epilepsy coexists with a variety of psychopathological phenomena and the association between psychotic episodes and several epileptic syndromes is long recognized. Epileptic psychotic states can be classified according to their temporal relationship with seizure occurrence into interictal and peri-ictal, and within these pre-ictal, ictal and postictal.Case Report: We aim to present the case of a 52-year-old male with a temporal lobe epilepsy due to mesial temporal lobe sclerosis. As this is a refractory epilepsy, he was submitted to left hippocampectomy, being seizure free for about three years. Recently, given the stabilization of epilepsy, the antiepileptic drugs were reduced. Contrary to the expectations, the patient recurred to the emergency room presenting postictal psychosis, described by a lucid period followed by confusion, irritability and heteroaggressiveness, as well as sexual disinhibition and delusions. We received the patient in the hospital with no mention that he had had a seizure and that this could be the source of his psychosis.Discussion: The reported case highlights the significance of the differentiation of the psychosis cases associated with epilepsy, which often remain underdiagnosed or wrongly diagnosed as psychosis not related to this organic pathology.

Introduction: Optic nerve damage unrelated to uveitis, retinal disease and intracranial hypertension are extremely rare in Behçet's Disease (BD) . We report a case of BD with systemic manifestations in which the initial neurological expression was an optic neuritis.

Case Report: A 20-year-old woman, with recurrent oral aphthosis, presented with acutely right blurred vision and was diagnosed with an optic neuritis. One year later she complained of lack of strength in the left limbs and had a mild left hemiparesis. Two years later she presented with a pancreatitis, skin ulcers and rectal bleeding, and she was diagnosed with multisystemic BD.

Discussion: We present a case where the clinical and laboratory features were very typical of inflammatory damage to the optic nerve in a patient with a later diagnosis of BD. Recognition of this clinical syndrome, although uncommon, might help clinicians to remember BD in the differential diagnosis of patients presenting with optic neuritis.

Keywords: Optic neuritis, Multisystemic, Behçet's Disease.

Special Issue on Inflammatory Demyelinating Diseases of the Central Nervous System

Introduction: The concept of Neuromyelitis Optica (NMO) spectrum disorders (NMOSD) encompasses patients with or without NMO-Immunoglobulin G antibodies, fulfilling several clinical and imagiological criteria defined in the international consensus diagnostic criteria of 2015. The coexistence of other autoimmune disorders is common and considered supportive of NMOSD" diagnosis.

Case Report: A 24 year-old female was admitted due to a sudden painful hypovision in the left eye. The etiological investigation was negative but brain MRI showed T2 hyperintensity of the left optic nerve with gadolinium enhancement, but no signal changes in the brain parenchyma. Eleven years before, she had been diagnosed with autoimmune thyroiditis based on hypothyroid goiter with biopsy-proven chronic lymphocytic inflammation and positive thyroid-related antibodies. Two years after optical neuritis, she developed sensory complaints below a thoracic defined level. MRI revealed a diffuse T2 hyperintense area from D2 to D5. She tested positive for antibody anti-NMO/Aquaporin-4. One month later she had a new episode of left optic neuritis. With two optic neuritis and one longitudinally extensive myelitis, with positive serum test for NMO antibody, she was diagnosed with NMOSD with hypothyroidism and started Azathioprine.

Discussion: In up to 20-30% patients with NMOSD there is an association with autoimmune thyroiditis. In the literature the reference to “thyroid disease” and seroprevalence of thyroid-related antibodies in NMOSD patients, ranges between 5.6% and 20.5%, but case reports/series with definite clinical, analytical and histological characterization of the thyroiditis are scarce. We present a case of a patient with clear data consistent with autoimmune thyroiditis who, more than a decade later, was diagnosed with NMO

Introduction: Multiple sclerosis (MS) is an autoimmune disorder (AD) that has been associated with other ADs, such as thyroiditis. However, association with autoimmune polyglandular syndromes (APS) has seldom been described and some reports documented central nervous system (CNS) involvement by APG.

Case Report: A 32-year-old female presented with acute, painful, unilateral vision loss. She had past medical history of follicular thyroid adenoma and lymphocytic thyroiditis, having undergone partial thyroidectomy, and diabetes mellitus type 1 (anti-GAD+), fulfilling criteria for APG type III. Her neurological examination was remarkable only for a right afferent pupillary defect. Laboratory tests showed cobalamin deficiency and positivity for anti-thyroid, anti-parietal celland anti-intrinsic factor antibodies. Anti-gliadin and anti-tissue transglutaminase antibodies were negative. Thyroid function, cortisol and adrenocorticotropic hormone (ACTH) levels were normal. Neuraxis MRI showed periventricular, juxtacortical and infratentorial white matter lesions and two small spinal lesions, all with no gadolinium enhancement. Cerebrospinal fluid analysis, including oligoclonal bands was unremarkable. Visual evocated potentials had bilaterally increased latency values. A course of intravenous corticosteroids was started and cobalamin was supplemented. No long-term treatment was initiated. During 2-year follow-up, no other relapse has been recorded and neuraxis MRI remains stable.

Discussion: Few cases of APG have been described with inflammatory CNS involvement and/or MS. It is unclear whether there is concomitant occurrence of two ADs, or if there is a shared pathophysiology. Moreover, cobalamin deficiency is common in this condition, providing a potential cause for CNS disease. In this case, a watchful waiting approach was adopted.

Keywords: Multiple sclerosis, Autoimmune polyglandular syndrome.

Special Issue on Inflammatory Demyelinating Diseases of the Central Nervous System

Introduction: Neuromyelitis optica (NMO) can occur in the context of autoimmune diseases, particularly systemic lupus erythematosus, in what is now defined as NMO spectrum disorders (NMOSD).

Case Report: We describe a case of a 32-year old woman with recurrent optic neuritis and a long-standing history of systemic lupus erythematosus (SLE). She was subsequently found to be seropositive for neuromyelitis optica immunoglobulin G (NMO-IgG) (anti-aquaporin-4 antibody) and was diagnosed with NMOSD. Five years after this diagnosis the patient remains clinical stable (no relapses) with low doses of oral prednisolone.

Discussion: There are no specific recommendations for the treatment of NMO/SLE overlapping cases and few data exist on a possible benign form of NMO. We present a case illustrative of a good-outcome NMOSD.

Introduction: Recent observations suggest an association between Multiple sclerosis (MS) and Inflammatory Bowel Disease (IBD). The anti-TNF-alpha antagonists such as infliximab are an effective therapeutic option in IBD, but may induce worsening of demyelinating diseases.

Case Report: A 33-year-old Caucasian male with a diagnosis of ulcerative colitis (UC) since 2007 and of relapse-remitting MS since 2004. After MS diagnosis, he started subcutaneous interferon beta-1a thrice a week. No relapses were observed. Six years after diagnosis, the patient developed injection-site reaction and had ulcerative colitis exacerbation. In spite of testing positive for anti-JC virus antibodies, he was medicated with natalizumab (Tysabri®) for two years. After this treatment, in the subsequent three years, by reason of UC worsening, he began azathioprine 150 mg daily. Patient persisted asymptomatic until 2013, when a significant aggravation of UC was detected. Consequently, he started anti-TNF-alpha agent (infliximab), maintaining azathioprine. He had no relapses until the one registered in May 2015. At that time high dose metilprednisolone pulse was initiated and anti-TNF-alpha was interrupted, azathioprine was augmented (200 mg/day) and, later on, the patient started daily subcutaneous glatiramer acetate (Copaxone®).

Discussion: Our report emphasizes the complexity of treating patients with MS and other autoimmune diseases such as IBD. Despite being very effective in controlling ulcerative colitis, infliximab may worsen MS. The authors discuss what should be the best treatment to control both conditions.

Keywords: Multiple sclerosis, Inflammatory bowel disease, Infliximab.

Special Issue on Inflammatory Demyelinating Diseases of the Central Nervous System

Introduction: Acute disseminated encephalomyelitis (ADEM) is classically defined as a multifocal encephalopathic and typically monophasic demyelinating inflammatory clinical event. A multiphasic form of ADEM has been recognized; differentiating multiphasic ADEM from Multiple Sclerosis (MS) may represent a diagnosis challenge.

Case Report: We present the case of a patient with a five episodes of subacute encephalopathy together with various focal neurological deficits, suggestive of multiphasic ADEM. Lastly, a sixth event presented as a non-encephalopathic relapse. According to the new criteria for diagnosis of pediatric acquired demyelinating syndromes, the patient actually displays a chronic relapsing disease like. However, 5 years after onset of illness, the patient is being treated with Azathioprine 150 mg/day and remains clinical and imagiologically stable.

Discussion: Progression to MS occurs in pediatric patients in which the initial presentation is ADEM; however, in this patient, the current stability raises questions about the need for changing the current therapeutic regimen.

Introduction: Several central nervous system (CNS) disorders may present with a tumour-like mass mimicking brain tumour, including infections and vasculitis of the CNS.

Case Report: We report the case of a previously healthy 61-year-old woman presenting with paraphasia. MRI showed a large left temporal, ill-defined lesion with heterogeneous signal intensity on both T1W and T2W images, and heterogeneous contrast enhancement, surrounded by oedema, suggestive of a high-grade glioma. Surgery was performed, but the pathology of the tissue was negative for neoplastic tissue and suggested chronic inflammation. Two months later she presented with progressively worsening neurological signs, and a repeat MRI revealed extensive re-growth of the lesion. In the absence of a definitive diagnosis, a second surgical approach was undertaken. Pathological examination now suggested, additionally, chronic non-granulomatous vasculitis. Pseudotumor form of primary angiitis of the CNS was considered. However, after specific DNA probing, Aspergillus fumigatus was found present in both the biopsy tissue and peripheral blood samples.

Discussion: Aspergillus fumigatus is a common fungus that rarely infects the CNS. Immunocompromised patients are more commonly infected, although there have been several reports in immunocompetent patients, usually presenting as a mass lesion. Due to the unspecific imaging appearance pseudotumor masses pose a real diagnostic challenge.

Keywords: Pseudotumor, Vasculitis, Aspergillus fumigatus.

Special Issue on Inflammatory Demyelinating Diseases of the Central Nervous System

Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a heritable small-vessel disease of the brain characterized by subcortical ischaemic events, cognitive impairment and leukoencephalopathy. The clinical presentation of the disease varies substantially between and within families and might be modulated by gender and common vascular risk factors.

Case Report: We present the clinical case of a 57-year-old patient initially misdiagnosed with multiple sclerosis. The case illustrates how important it is to re-evaluate family history and imaging features in clinically non-progressive patients and demonstrates the substantial diversity of CADASIL within family members. In this setting, the approach of minimally symptomatic patients with white matter changes can present some diagnostic challenges.

Discussion: This case illustrates the diagnostic challenge of minimally symptomatic CADASIL. The need to reassess the diagnosis in such patients is of uttermost importance, since it has implications for disease management and genetic counseling.

Keywords: CADASIL, Multiple sclerosis, White matter lesions.

Special Issue on Inflammatory Demyelinating Diseases of the Central Nervous System

Introduction: Tumor necrosis factor- alpha inhibiting medications (TNFi) have revolutionized the treatment of autoimmunity. These are the most common medications used for conditions such as rheumatoid arthritis, juvenile idiopathic arthritis and for many other rheumatologic disorders (uveitis, vasculitidies, granulomatous disorders). These drugs have made possible long-standing disease remission. Regarding the large number of people on active treatment with TNFi, their benefits must be balanced against concerns for side effects.

Case report: We report a case and discuss a rare, but serious adverse event associated with TNFi usage: central nervous system (CNS) demyelination.

Discussion: Possible side effects related to TNFi include CNS acquired demyelinating disorders. After starting any immune modulating therapy, such as TNFi, there should be close monitoring of side effects or new disease symptoms.

Background: Anti-NMDAR encephalitis is the best-characterized and most common antibody-mediated encephalitis. With early aggressive immunosuppression, prognosis is usually good, although recurrences have been reported in up to 20–25% of patients, mostly in patients without teratoma. Guidelines for the best medical management are still lacking, especially concerning its duration, the comparative efficacy of individual treatments and the role of corticoid-sparing agents. It is also unclear if tumors should be sought after an initial negative screening in males and females younger than 18.

Case report: We report the case of a 30-month boy with previous speech delay, who presented with insidious onset of irritability, asymmetric dystonia and chorea, sleep disturbance and consciousness fluctuations. Infections and metabolic disturbances were excluded. NMDAR antibodies were identified in serum and CSF. MRI showed right insular and frontal cortex T2-hyperintensity. Tumor screening was negative. He was initially treated with metilprednisolone pulses and IVIG and then kept on monthly IVIG and prednisolone 1mg/Kg/day, followed by slowly tapering after 2 months of sustained clinical improvement. Follow-up MRI disclosed some brain atrophy and the patient remains with a significant speech delay after 5 months. Despite the good response to first-line treatments, as in this case, steroid side effects in children may be severe and irreversible. On the other hand, quick withdrawal may compromise recovery and increase relapse probability, especially in cases without associated tumor.

Conclusions: This case is illustrative of the difficulties faced by clinicians in the long-term management of NMDAR-encephalitis, namely in respect to the need and best choice of second-line treatments.

Introduction: Many patients with pacemaker develop a medical condition for which a magnetic resonance imaging (MRI) may be necessary. The evidence around conventional pacemaker being a contraindication to MRI is controversial.

Case report: A 73-year-old man presented with a 12-month worsening history of neck pain radiating to both arms with paresthesias and weakness in both arms. He had a conventional pacemaker implanted 5 years before. A week later he became quadriparetic, losing the ability to walk. MRI was deemed necessary and it was successfully performed with collaboration of cardiology and anesthesiology specialist. MRI revealed an intramedullary lesion suggestive of neoplasm and he was submitted to neurosurgical intervention.

Discussion: Based on the findings from several clinical studies the risk of MRI in patients with conventional pacemaker may be lower than previously thought if a number of conditions are met and appropriate precautions are taken.

Keywords: Magnetic resonance imaging, Pacemaker, Cardiac devices.

Special Issue on Controversies in Neurology. From the 10th World Congress on Controversies in Neurology (CONy), Lisbon, Portugal. 17–20 March 2016.

Background: Nonaneurysmal sulcal subarachnoid hemorrhage (sSAH) is a rare cause of cerebrovascular disease and represents a small proportion of nontraumatic SAH.

Case report: We report the case of a 54-year-old male patient, who presented with severe abrupt headache, followed two days later by right visual field defect and dysphasia. Head CT revealed left peri-rolandic sSAH and two hypodense lesions (left cortical parieto-occipital and left subcortical parietal). Additional investigation found a severe MCA atherosclerotic stenosis.

Introduction: Central retinal vein occlusion (CRVO) is a common vascular retinal pathology. It produces a subacute monocular severe visual loss, usually painless. Retinal and iris neovascularization can result in vitreous hemorrhages, neovascular glaucoma and tractional retinal detachment. The diagnosis is clinically-based, through funduscopic exam, and supported by fluorescein angiography, an invasive technique requiring intravenous contrast administration. The diagnosis becomes harder in the presence of local complications preventing ocular fundus observation, as hemovitreous, sometimes requiring clarifying surgical intervention. Neurosonology, a non-invasive and safe technique, has not yet been pointed out as a definite diagnostic tool in CRVO.

Case Report: An 82-years-old female with known and poorly controlled essential hypertension and type 2 diabetes mellitus, developed a subacute visual acuity impairment in her left eye, allowing solely hand movements visualization. Ophthalmoscopy reveled a total hemovitreous of the left eye. Ocular echography did not show any other lesions. Differential diagnosis stood between CRVO and ocular arterial ischemic syndrome. Transorbital colour coded Doppler identified a preserved left ophthalmic artery and a reverberant flow in the central retinal vein, suggesting CRVO. The patient underwent pars plana vitrectomy associated to endolaser as management of this secondary complication of CRVO.

Discussion: The present clinical case underlines a potential new neurossonologic application, as a diagnostic tool in CRVO, particularly useful when ocular fundus cannot be properly visualised.

Introduction: Cluster headaches and trigeminal neuralgia have typical clinical features with recurrent, attacks of severe pain in orbito-temporal area along with unilateral lacrimation and rhinorrhea (cluster headache) or within the innervation area of the roots of trigeminal nerve branches (trigeminal neuralgia). Co-occurrence of these two conditions, as it is often referred in the literature, is named cluster-tic syndrome.

Case report: A 46-year-old, female patient was presented with episodic form of cluster headaches and concurrent trigeminal neuralgia. Painful attacks had a different time distribution and matching localization. Specific treatment led to relief in both types of headaches. MRI of the brain showed aberrant superior cerebellar artery which contacts with proximal segments of right trigeminal nerve, possibly leading to neuropathic pain.

Discussion: Cluster headache has characteristic clinical presentation with intermittent, recurrent, severe pain and dysautonomic features in the orbito-temporal area, specific treatment of acute pain attacks (oxygen inhalation, subcutaneous sumatriptan injections) and specific prevention therapy (verapamil, prednisone), different from other primary headaches. Trigeminal neuralgia is presented with attacks of stabbing unilateral facial pain following the sensory distribution of one or more of the branches of trigeminal nerve. Both conditions are rare and its association is even more rare and called cluster-tic syndrome and they produce a strong and exhausting pain which requires a immediate attention and treatment.

Background: Psychogenic movement disorders (PMD) include a wide range of involuntary motor function disturbances that lack an organic cause. Presentation with the form of any known organic movement disorder can be seen. Psychogenic facial movement disorder (PFMD) is an interesting form of PMD and it is not yet fully characterised.

Case report: A 44-year-old female patient was evaluated because of deviation of her mouth. She was admitted to another hospital before, in which cranial MRI had been performed and did not demonstrate any abnormality. Steroid therapy had been initiated with the diagnosis of peripheral facial paralysis (PFP). The patient was admitted to our outpatient clinic because the deviation of her mouth was not resolved completely. Neurological examination revealed flattening of the right nasolabial fold and downward retraction of the contralateral edge of the mouth, which disappeared during talking and exacerbated at rest. These findings suggested psychogenic facial dystonia and she was diagnosed as having PFMD. Her steroid therapy was discontinued and treatment with alprazolam was initiated. A prominent resolution of her complaints was observed during post-treatment follow-up control visits.

Discussion: Although PFMD is not a rare condition, it is still under-recognized and under-treated. In patients with PFMD, phasic or tonic muscular spasms resembling dystonia can be seen. It involves most commonly the lips. A prompt diagnosis based on positive clinical signs will prevent unnecessary investigations and lessen the morbidity.

Introduction: Spinal dural arteriovenous fistula (SDAVF) is a rare condition, but accounts for great disability in those affected. Despite improvements in spinal imaging, SDAVF diagnosis is often difficult or masked by more common entities.

Case report: A 42-year-old-woman, with a history of ileal resection 4 years prior, presented with a 6-month course of progressive walking difficulty, denying any sensory or bladder complaints. Physical examination revealed spastic paraparesis, brisk deep-tendon reflexes in the lower limbs, bilateral Babinski sign and bilateral foot drop. Blood chemistry was normal except for low vitamin B12 levels. Electromyogram was compatible with sensorimotor axonal polyneuropathy and cervical, thoracic and lumbar spinal MRI revealed no signal change. Parenteral cyanocobalamin supplementation was initiated and the patient was discharged with a diagnosis of polyneuropathy and probable subacute combined degeneration. In the following months, the patient’s gait improved, but the spastic paraparesis was unchanged. Repeat spinal cord MRI revealed no signal change. Given the lack of improvement, a SDAVF was suspected. Spinal MR-angiography and volumetric T1 acquisitions after contrast were obtained using thin-slice and multiplanar reconstruction, revealing dilated vessels in the spinal periphery from T11 to L2 levels. Digital subtraction angiography confirmed the diagnosis and the patient was referred for surgical occlusion of the fistula. After surgical intervention, there was a clinical improvement.

Conclusion: We describe a case of a SDAVF with superimposed vitamin B12 deficiency, whose diagnosis required extra-thin cuts of MR-angiography. SDAVFs are potentially reversible causes of myelopathy, thus emphasizing the importance of their early identification.

Background: Freezing of gait is a gait disorder frequently attributed to Parkinsonism. When it occurs in isolation the term Primary Progressive Freezing can be applied. It is a rare finding and recently its validity was questioned.

Case report: An 85-year-old man, without known vascular risk factors, came to our attention after falling several times. He complained of difficulty initiating gait and turning. Neurological examination in the initial consult unveiled freezing, particularly when initiating gait, without other overt signs of Parkinsonism. Levodopa+carbidopa+entacapone had already been introduced by another physician, and later rasagiline was added, but the latter was suspended due to absence of response. Imaging studies showed ischemic lesions in the posterior aspect of the left corona radiata and diffuse supratentorial and infratentorial atrophic lesions.

Conclusion: Primary progressive freezing is a movement disorder that can be considered in the differential diagnosis of the Parkinson-Plus syndromes currently in need of better characterization. In this patient, after excluding other causes, it appears to be an adequate explanation for this unusual presentation.